Ave M. Baffico
Genoa, Italy
Last Updated: 09/26/2026
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Found 9 publications
Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children.
Journal: Journal of endocrinological investigation
Published: July 14, 2023
The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs.
Journal: International journal of molecular sciences
Published: February 20, 2022
Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.
Journal: European journal of human genetics : EJHG
Published: January 14, 2020
Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration.
Journal: Taiwanese journal of obstetrics & gynecology
Published: October 13, 2015
Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys.
Journal: Congenital anomalies
Published: February 26, 2014
Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia.
Journal: Congenital anomalies
Published: January 24, 2014
Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel).
Journal: Congenital anomalies
Published: October 12, 2013
The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).
Journal: BioMed research international
Published: October 26, 2012
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia.
Journal: The journal of obstetrics and gynaecology research
Published: February 22, 2012
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Last Updated: 09/26/2026